Orphanet: Autosomal dominant Robinow syndrome

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Autosomal dominant Robinow syndrome

Disease definition

The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

ORPHA:3107

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: Q87.1
ICD-11: LD24.A
OMIM: 180700 616331 616894
UMLS: C5200540
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

About 100 cases of this type have been reported in the literature to date.

Clinical description

The clinical signs are generally milder in dominant cases of RS than in the AR form. In the presence of rib fusions, the recessive form of the syndrome should be considered.

Etiology

Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.

Genetic counseling

Transmission is autosomal dominant.

Expert reviewer(s): Dr Juliana MAZZEU - Last update: May 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)

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